Original Title: Consejo Genético en anomalías congénitas en la Comunidad Autónoma del País Vasco

Authors' objectives: ● Analyse the effectiveness of genetic counselling in the prevention of congenital anomalies. ● Determine the situation of the diagnosis of genetic anomalies and genetic counselling in the Basque Autonomous Community ● Draw up a number of recommendations concerning the indication and clinical utility of genetic diagnoses and counselling in congenital anomalies, as well as the possible organisation within the public network of Osakidetza-Basque health service.

Authors' results and conclusions: The preventive capacity of genetic counselling relates to primary and secondary prevention techniques, the information process and variables relating to ethical, and legal and cultural values. Therefore it is difficult to evaluate its effectiveness. However, genetic counselling should be included as part of the good clinical practices in attending to congenital anomalies in order to guarantee adequate information for the individual and slash or family concerning preconception and prenatal risks and care; or on prenatal and postnatal risks and care. Likewise, care and information before and after genetic tests are carried out must be guaranteed. In Osakidetza-Basque health service, the use of genetic counselling is extremely variable and involves problems of access and organisation. In 2005, there were 3 specific genetic counselling surgeries in three public hospitals in the Basque Community and a great lack of knowledge about the services offered and the reference system was detected. There is little use of common protocols (25%) or coordination between professionals. In less than 20% of cases of congenital anomalies detected in 2005 did the clinical history of the mother and/or newborn child indicate that genetic counselling had been provided, this being more frequent in the case of voluntary pregnancy interruptions than in that of the newborn child. In 52.3% of cases, the provider of genetic counselling was a specialist Obstetrician or Gynaecologist and in 34.8% of cases this was a clinical geneticist. The recommendations on genetic counselling made by the panel of experts is summarised in the following points: a) Indications b) Requirements of professionals c) Organisation of care according to levels d) Care protocol e) Recommendations in the prenatal care of congenital anomalies f) Recommendations in the postnatal care of congenital anomalies

Authors' recommendations: Genetic counselling focuses on prevention and is effective in the prevention of cases of congenital anomalies both in the preconception, prenatal and postnatal periods to the extent that primary and secondary prevention measures can be applied and in specific cases of congenital anomalies, although the essential aim is to guarantee information, forming part both of the care process and the fundamental rights of individuals to be informed. There is a public care structure in the Basque Community for attending to congenital anomalies, although the provision of generic counselling is extremely variable as well as the offer and recording in clinical histories. Likewise, variability was detected in the organisation of clinical genetics services. Models of genetic counselling care and genetic services are extremely variable at a regional level and are not assessed. At a European level these are generally public. It has been possible for a panel of experts to reach agreement on recommendations at an organisational and care improvement level in the provision of genetic counselling and the care of congenital anomalies in the Basque Community, which should be applied to other kinds of genetic anomalies not included in this study as they do not from part of the Registry. For the adequate provision of genetic counselling, an organisational model is required to cover the provision of all health services, co-ordinated with other educational and social institutions to guarantee the overall care of individuals, families and descendants throughout their life history: family planning, early detection and care of cases of anomalies. The initial point of genetic counselling applied to the prevention or monitoring of congenital anomalies is based on the possibility of establishing a precise diagnosis as well as incorrect interpretation of this.Therefore it is essential to train and qualify professionals to guarantee an appropriate genetic counselling service and to guarantee an optimum quality level, which would include an adequate organisation of clinical genetics and genetic services in the Basque Community. Both a range of services and agreed clinical practice kinds and protocols should be established in order to improve the care of anomalies and to provide genetic counselling.

Authors' methods: ● Review of the scientific evidence relating to: – Effectiveness of genetic counselling in the prevention of congenital anomalies during the preconceptional, prenatal and postnatal periods. – Effectiveness of the early diagnosis of congenital anomalies. – Existing models for the care of congenital anomalies and genetic counselling. ● Description and analysis of the congenital anomaly care model in the Basque Autonomous Community based on data concerning activity and resources, as well as interviews with key personnel. ● Analysis of cases of congenital anomalies recorded in the Congenital Anomalies Registry of the Basque Autonomous Community in 2005. ● Proposal for a care model and recommendations applicable within the Basque Community agreed upon by a panel of experts based on the modified Delphi technique.

Project Status: Completed

Year Published: 2008

URL for published report: https://www.euskadi.eus/contenidos/informacion/2008_osteba_publicacion/es_def/adjuntos/D_08_06%20consejo%20genetico.pdf

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: Spain

Organisation Name: Basque Office for Health Technology Assessment

Contact Address: C/ Donostia – San Sebastián, 1 (Edificio Lakua II, 4ª planta) 01010 Vitoria - Gasteiz

Contact Name: Lorea Galnares-Cordero

Contact Email: lgalnares@bioef.eus

Copyright: <p>Basque Office for Health Technology Assessment (OSTEBA)</p>